V9A (p.Val9Ala) variant of CYP11B1 (P15538)
V9A (p.Val9Ala) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- rs1554653718
- ClinGen CA372397485
- ClinVar RCV000517023
- ClinVar RCV002481671
- Uncertain significance
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.16
- CADD 6.84
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available